43943[HGNC] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 403353	NM_001261430.2(PTGES3L):c.433-8_433-7del	PTGES3L, PTGES3L-AARSD1	Deletion (intron variant)	not specified	GBenign
Select item 2647807	NM_001136042.2(PTGES3L-AARSD1):c.120G>A (p.Ala40=)	PTGES3L, PTGES3L-AARSD1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2218645	NM_001136042.2(PTGES3L-AARSD1):c.119C>T (p.Ala40Val)	AARSD1, PTGES3L +1 more (A40V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 2423446	NC_000017.10:g.(?_41052894)_(41154937_?)dup	AARSD1, G6PC1 +4 more	Duplication	not provided	GUncertain significance
Select item 1809350	GRCh37/hg19 17q21.31(chr17:41105913-41307101)x3	AARSD1, BRCA1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic